C10orf99 - SNP

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Select item 136971.

rs13697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:84185099 (GRCh38)
10:85944855 (GRCh37)
Canonical SPDI:: NC_000010.11:84185098:T:A
Gene:: C10orf99 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.266471/5347 (ALFA)
A=0.13037/2185 (TOMMO)
A=0.13963/408 (KOREAN)
A=0.184498/338 (Korea1K)
A=0.198884/891 (Estonian)
A=0.219626/47 (Vietnamese)
A=0.242192/1213 (1000Genomes)
A=0.26/156 (NorthernSweden)
A=0.262525/262 (GoNL)
A=0.263889/57 (Qatari)
A=0.270496/1003 (TWINSUK)
A=0.275/11 (GENOME_DK)
A=0.277439/91 (HapMap)
A=0.278333/38946 (GnomAD)
A=0.282304/1088 (ALSPAC)
A=0.283917/75150 (TOPMED)
T=0.413934/101 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000010.11:g.84185099T>A, NC_000010.10:g.85944855T>A, XM_005269811.4:c.*10T>A, XM_005269811.3:c.*10T>A, XM_005269811.2:c.*10T>A, XM_005269811.1:c.*10T>A, NM_207373.3:c.*333T>A, NM_207373.2:c.*333T>A

Select item 38870872.

rs3887087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84174494 (GRCh38)
10:85934250 (GRCh37)
Canonical SPDI:: NC_000010.11:84174493:C:G,NC_000010.11:84174493:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (KOREAN)
C=0.2694/125 (SGDP_PRJ)
C=0.28171/4143 (TOMMO)
C=0.31579/12 (Siberian)
C=0.32856/596 (Korea1K)
C=0.44907/97 (Qatari)
HGVS:: NC_000010.11:g.84174494C>G, NC_000010.11:g.84174494C>T, NC_000010.10:g.85934250C>G, NC_000010.10:g.85934250C>T

Select item 42449453.

rs4244945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84171818 (GRCh38)
10:85931574 (GRCh37)
Canonical SPDI:: NC_000010.11:84171817:A:G
Gene:: C10orf99 (Varview), CERNA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.228587/4318 (ALFA)
A=0.175/7 (GENOME_DK)
A=0.195/117 (NorthernSweden)
A=0.199399/199 (GoNL)
A=0.209652/808 (ALSPAC)
A=0.212244/787 (TWINSUK)
A=0.212277/29760 (GnomAD)
A=0.22846/60471 (TOPMED)
A=0.229911/103 (SGDP_PRJ)
G=0.271994/4559 (TOMMO)
A=0.284821/1276 (Estonian)
G=0.287132/839 (KOREAN)
A=0.3/12 (Siberian)
A=0.319444/69 (Qatari)
G=0.319869/586 (Korea1K)
G=0.32243/69 (Vietnamese)
A=0.343558/112 (HapMap)
A=0.351499/1760 (1000Genomes)
HGVS:: NC_000010.11:g.84171818A>G, NC_000010.10:g.85931574A>G, NR_134505.1:n.259T>C

Select item 43150044.

rs4315004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:84179795 (GRCh38)
10:85939551 (GRCh37)
Canonical SPDI:: NC_000010.11:84179794:G:C,NC_000010.11:84179794:G:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.445522/9511 (ALFA)
T=0.193113/3237 (TOMMO)
T=0.229295/670 (KOREAN)
G=0.25/10 (GENOME_DK)
T=0.262555/481 (Korea1K)
G=0.281407/112 (SGDP_PRJ)
G=0.333333/12 (Siberian)
G=0.339843/89953 (TOPMED)
G=0.389535/737 (HapMap)
G=0.392857/22 (PRJEB36033)
G=0.401667/241 (NorthernSweden)
G=0.430512/2156 (1000Genomes)
G=0.449074/97 (Qatari)
G=0.469406/2102 (Estonian)
HGVS:: NC_000010.11:g.84179795G>C, NC_000010.11:g.84179795G>T, NC_000010.10:g.85939551G>C, NC_000010.10:g.85939551G>T

Select item 43369735.

rs4336973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:84174481 (GRCh38)
10:85934237 (GRCh37)
Canonical SPDI:: NC_000010.11:84174480:T:C,NC_000010.11:84174480:T:G
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.84174481T>C, NC_000010.11:g.84174481T>G, NC_000010.10:g.85934237T>C, NC_000010.10:g.85934237T>G

Select item 43488336.

rs4348833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84176404 (GRCh38)
10:85936160 (GRCh37)
Canonical SPDI:: NC_000010.11:84176403:T:C
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.254692/40331 (ALFA)
C=0.101124/54 (MGP)
C=0.143519/31 (Qatari)
C=0.161149/807 (1000Genomes)
C=0.16649/314 (HapMap)
C=0.188337/49851 (TOPMED)
C=0.192547/3227 (TOMMO)
C=0.198152/579 (KOREAN)
C=0.20273/28394 (GnomAD)
C=0.210106/237 (Daghestan)
C=0.221667/133 (NorthernSweden)
C=0.239083/438 (Korea1K)
C=0.247664/53 (Vietnamese)
C=0.251563/1127 (Estonian)
C=0.268339/995 (TWINSUK)
C=0.284569/284 (GoNL)
C=0.287494/1108 (ALSPAC)
C=0.297297/22 (PRJEB36033)
C=0.35/14 (GENOME_DK)
T=0.421296/91 (SGDP_PRJ)
T=0.5/10 (Siberian)
HGVS:: NC_000010.11:g.84176404T>C, NC_000010.10:g.85936160T>C

Select item 43902877.

rs4390287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:84185428 (GRCh38)
10:85945184 (GRCh37)
Canonical SPDI:: NC_000010.11:84185427:C:G
Gene:: C10orf99 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003259/47 (ALFA)
G=0.003592/18 (1000Genomes)
G=0.00422/592 (GnomAD)
G=0.00445/1178 (TOPMED)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84185428C>G, NC_000010.10:g.85945184C>G

Select item 43947848.

rs4394784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:84176434 (GRCh38)
10:85936190 (GRCh37)
Canonical SPDI:: NC_000010.11:84176433:A:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0./0 (HapMap)
HGVS:: NC_000010.11:g.84176434A>T, NC_000010.10:g.85936190A>T

Select item 45470419.

rs4547041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84182687 (GRCh38)
10:85942443 (GRCh37)
Canonical SPDI:: NC_000010.11:84182686:C:G,NC_000010.11:84182686:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (HapMap)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84182687C>G, NC_000010.11:g.84182687C>T, NC_000010.10:g.85942443C>G, NC_000010.10:g.85942443C>T

Select item 493397110.

rs4933971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84185533 (GRCh38)
10:85945289 (GRCh37)
Canonical SPDI:: NC_000010.11:84185532:C:G,NC_000010.11:84185532:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.197694/2349 (ALFA)
G=0.031283/524 (TOMMO)
G=0.049672/91 (Korea1K)
G=0.058864/172 (KOREAN)
G=0.065421/14 (Vietnamese)
G=0.280255/88 (HapMap)
G=0.282407/61 (Qatari)
G=0.297002/1487 (1000Genomes)
G=0.335491/1503 (Estonian)
G=0.341723/1317 (ALSPAC)
G=0.345739/1282 (TWINSUK)
G=0.35214/93208 (TOPMED)
G=0.358333/215 (NorthernSweden)
G=0.363919/50969 (GnomAD)
G=0.381764/381 (GoNL)
C=0.400943/85 (SGDP_PRJ)
C=0.416667/10 (Siberian)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.84185533C>G, NC_000010.11:g.84185533C>T, NC_000010.10:g.85945289C>G, NC_000010.10:g.85945289C>T

Select item 707000511.

rs7070005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84184385 (GRCh38)
10:85944141 (GRCh37)
Canonical SPDI:: NC_000010.11:84184384:C:G,NC_000010.11:84184384:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.390372/119051 (ALFA)
T=0.185751/146 (PRJEB37584)
T=0.194281/3256 (TOMMO)
C=0.222222/20 (PRJEB36033)
T=0.229979/672 (KOREAN)
C=0.25/10 (GENOME_DK)
T=0.262136/54 (Vietnamese)
T=0.266376/488 (Korea1K)
C=0.28392/113 (SGDP_PRJ)
C=0.333333/12 (Siberian)
C=0.336074/47047 (GnomAD)
C=0.340727/90187 (TOPMED)
C=0.358475/28212 (PAGE_STUDY)
C=0.363727/363 (GoNL)
C=0.378049/1457 (ALSPAC)
C=0.384304/1425 (TWINSUK)
C=0.389006/736 (HapMap)
C=0.401667/241 (NorthernSweden)
C=0.432698/2167 (1000Genomes)
C=0.449074/97 (Qatari)
C=0.470982/2110 (Estonian)
T=0.485035/551 (Daghestan)
T=0.487044/1015 (HGDP_Stanford)
HGVS:: NC_000010.11:g.84184385C>G, NC_000010.11:g.84184385C>T, NC_000010.10:g.85944141C>G, NC_000010.10:g.85944141C>T

Select item 709062812.

rs7090628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84176145 (GRCh38)
10:85935901 (GRCh37)
Canonical SPDI:: NC_000010.11:84176144:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.029857/564 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.013333/8 (NorthernSweden)
T=0.019038/19 (GoNL)
T=0.020924/105 (1000Genomes)
T=0.022384/83 (TWINSUK)
T=0.025/1 (GENOME_DK)
T=0.025428/98 (ALSPAC)
T=0.025539/6760 (TOPMED)
T=0.030702/4303 (GnomAD)
T=0.045759/205 (Estonian)
T=0.050926/11 (Qatari)
C=0.411765/14 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84176145C>T, NC_000010.10:g.85935901C>T

Select item 709197813.

rs7091978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:84185186 (GRCh38)
10:85944942 (GRCh37)
Canonical SPDI:: NC_000010.11:84185185:A:G,NC_000010.11:84185185:A:T
Gene:: C10orf99 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0092/426 (ALFA)
G=0.00571/22 (ALSPAC)
G=0.00716/8 (Daghestan)
G=0.00809/30 (TWINSUK)
G=0.01002/10 (GoNL)
G=0.01167/7 (NorthernSweden)
G=0.01362/61 (Estonian)
G=0.01483/74 (1000Genomes)
G=0.01764/1388 (PAGE_STUDY)
G=0.02134/7 (HapMap)
G=0.02315/5 (Qatari)
G=0.025/1 (GENOME_DK)
A=0.5/5 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84185186A>G, NC_000010.11:g.84185186A>T, NC_000010.10:g.85944942A>G, NC_000010.10:g.85944942A>T, XM_005269811.4:c.*97A>G, XM_005269811.4:c.*97A>T, XM_005269811.3:c.*97A>G, XM_005269811.3:c.*97A>T, XM_005269811.2:c.*97A>G, XM_005269811.2:c.*97A>T, XM_005269811.1:c.*97A>G, XM_005269811.1:c.*97A>T, NM_207373.3:c.*420A>G, NM_207373.3:c.*420A>T, NM_207373.2:c.*420A>G, NM_207373.2:c.*420A>T

Select item 709315414.

rs7093154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84182281 (GRCh38)
10:85942037 (GRCh37)
Canonical SPDI:: NC_000010.11:84182280:G:A
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.218317/4124 (ALFA)
A=0.129946/2178 (TOMMO)
A=0.1375/616 (Estonian)
A=0.139973/409 (KOREAN)
A=0.181363/181 (GoNL)
A=0.184498/338 (Korea1K)
A=0.195/117 (NorthernSweden)
A=0.205607/44 (Vietnamese)
A=0.210626/781 (TWINSUK)
A=0.212963/46 (Qatari)
A=0.222885/859 (ALSPAC)
A=0.224703/1125 (1000Genomes)
A=0.225/9 (GENOME_DK)
A=0.240295/33661 (GnomAD)
A=0.24871/65831 (TOPMED)
G=0.415929/94 (SGDP_PRJ)
G=0.5/7 (Siberian)
HGVS:: NC_000010.11:g.84182281G>A, NC_000010.10:g.85942037G>A

Select item 789577015.

rs7895770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:84172208 (GRCh38)
10:85931964 (GRCh37)
Canonical SPDI:: NC_000010.11:84172207:G:A,NC_000010.11:84172207:G:C
Gene:: C10orf99 (Varview), CERNA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.032235/536 (ALFA)
A=0./0 (KOREAN)
A=0.000283/5 (TOMMO)
A=0.060045/269 (Estonian)
A=0.078701/394 (1000Genomes)
A=0.079158/79 (GoNL)
A=0.091667/55 (NorthernSweden)
A=0.103967/27519 (TOPMED)
A=0.125/27 (Qatari)
A=0.125/5 (GENOME_DK)
G=0.5/32 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84172208G>A, NC_000010.11:g.84172208G>C, NC_000010.10:g.85931964G>A, NC_000010.10:g.85931964G>C

Select item 791299416.

rs7912994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84172303 (GRCh38)
10:85932059 (GRCh37)
Canonical SPDI:: NC_000010.11:84172302:A:G
Gene:: C10orf99 (Varview), CERNA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.094653/1788 (ALFA)
G=0./0 (KOREAN)
G=0.059821/268 (Estonian)
G=0.08016/80 (GoNL)
G=0.084682/314 (TWINSUK)
G=0.085106/328 (ALSPAC)
G=0.085572/429 (1000Genomes)
G=0.091667/55 (NorthernSweden)
G=0.107744/15090 (GnomAD)
G=0.110303/29196 (TOPMED)
G=0.125/5 (GENOME_DK)
G=0.134259/29 (Qatari)
A=0.485294/33 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84172303A>G, NC_000010.10:g.85932059A>G

Select item 791824717.

rs7918247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84176722 (GRCh38)
10:85936478 (GRCh37)
Canonical SPDI:: NC_000010.11:84176721:C:G,NC_000010.11:84176721:C:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.040261/690 (ALFA)
G=0./0 (KOREAN)
T=0.000142/2 (TOMMO)
G=0.061607/276 (Estonian)
G=0.071142/71 (GoNL)
G=0.078232/392 (1000Genomes)
G=0.082512/318 (ALSPAC)
G=0.083603/310 (TWINSUK)
G=0.091667/55 (NorthernSweden)
G=0.100148/14036 (GnomAD)
G=0.102116/27029 (TOPMED)
G=0.111111/24 (Qatari)
G=0.125/5 (GENOME_DK)
C=0.5/29 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84176722C>G, NC_000010.11:g.84176722C>T, NC_000010.10:g.85936478C>G, NC_000010.10:g.85936478C>T

Select item 1078833118.

rs10788331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:84181151 (GRCh38)
10:85940907 (GRCh37)
Canonical SPDI:: NC_000010.11:84181150:G:A,NC_000010.11:84181150:G:C,NC_000010.11:84181150:G:T
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.10893/1780 (TOMMO)
C=0.19897/581 (KOREAN)
G=0.29275/113 (SGDP_PRJ)
G=0.36573/365 (GoNL)
G=0.37831/1458 (ALSPAC)
G=0.3835/1422 (TWINSUK)
G=0.38889/14 (Siberian)
G=0.44149/2211 (1000Genomes)
G=0.44907/97 (Qatari)
HGVS:: NC_000010.11:g.84181151G>A, NC_000010.11:g.84181151G>C, NC_000010.11:g.84181151G>T, NC_000010.10:g.85940907G>A, NC_000010.10:g.85940907G>C, NC_000010.10:g.85940907G>T

Select item 1078833219.

rs10788332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:84183713 (GRCh38)
10:85943469 (GRCh37)
Canonical SPDI:: NC_000010.11:84183712:T:A,NC_000010.11:84183712:T:C
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.498857/4800 (ALFA)
C=0.194387/3258 (TOMMO)
C=0.230137/672 (KOREAN)
T=0.25/10 (GENOME_DK)
C=0.265284/486 (Korea1K)
C=0.271028/58 (Vietnamese)
T=0.281407/112 (SGDP_PRJ)
T=0.333333/12 (Siberian)
T=0.334505/46725 (GnomAD)
T=0.338607/89626 (TOPMED)
T=0.363727/363 (GoNL)
T=0.377789/1456 (ALSPAC)
T=0.384304/1425 (TWINSUK)
T=0.403333/242 (NorthernSweden)
T=0.431449/2161 (1000Genomes)
T=0.444444/96 (Qatari)
T=0.471875/2114 (Estonian)
HGVS:: NC_000010.11:g.84183713T>A, NC_000010.11:g.84183713T>C, NC_000010.10:g.85943469T>A, NC_000010.10:g.85943469T>C

Select item 1088724920.

rs10887249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84180955 (GRCh38)
10:85940711 (GRCh37)
Canonical SPDI:: NC_000010.11:84180954:A:G
Gene:: C10orf99 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.375/6945 (ALFA)
G=0.161406/2705 (TOMMO)
G=0.204795/598 (KOREAN)
G=0.23494/429 (Korea1K)
A=0.283505/110 (SGDP_PRJ)
A=0.335165/46964 (GnomAD)
A=0.340984/90255 (TOPMED)
A=0.363727/363 (GoNL)
A=0.375973/1449 (ALSPAC)
A=0.382147/1417 (TWINSUK)
A=0.392857/11 (Siberian)
A=0.401667/241 (NorthernSweden)
A=0.435353/2180 (1000Genomes)
A=0.449074/97 (Qatari)
A=0.469196/2102 (Estonian)
HGVS:: NC_000010.11:g.84180955A>G, NC_000010.10:g.85940711A>G

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